JAG1 (jagged canonical Notch ligand 1)

Gene

• Entrez ID: 182
• Gene name: Jagged canonical Notch ligand 1
• Gene symbol: JAG1
• Synonyms (NCBI Gene): AGS, AGS1, AHD, AWS, CD339, CMT2HH, DCHE, HJ1, JAGL1
• Chromosome: 20
• Chromosome location: 20p12.2
• Summary: The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syn

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1131695	G>A,C,T	Pathogenic, likely-benign, benign	Coding sequence variant, synonymous variant, stop gained
rs28939668	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918350	G>A	Pathogenic	Coding sequence variant, missense variant
rs121918351	C>T	Pathogenic	Coding sequence variant, missense variant
rs121918352	A>G	Pathogenic	Coding sequence variant, missense variant
rs121918353	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142808131	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142855305	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147793030	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs148990028	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs151291264	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs199505265	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202063628	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs267605834	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs372121353	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372984801	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs533306015	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs542831744	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs727504412	ACTG>-	Pathogenic	Coding sequence variant, frameshift variant
rs746664646	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs753161584	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs755427292	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained, synonymous variant
rs766479402	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs769531968	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs771544217	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs775363555	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs863223648	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs863223649	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223655	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223661	TCCGTGGGGAACGCATCGCTGCGCCGCGCG>-	Pathogenic	Initiator codon variant, 5 prime UTR variant, inframe deletion
rs863223662	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863223663	->A	Pathogenic	Coding sequence variant, stop gained
rs863223664	GC>A	Pathogenic	Coding sequence variant, frameshift variant
rs863223665	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223666	->G	Pathogenic	Coding sequence variant, frameshift variant
rs863223667	CC>-,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs863223668	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223669	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223672	->A	Pathogenic	Coding sequence variant, frameshift variant
rs863223673	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223674	CC>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223675	A>-	Pathogenic	Coding sequence variant, stop gained
rs863223676	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs863223677	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs863223678	G>A	Pathogenic	Coding sequence variant, stop gained
rs863223680	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs863223682	AGGAGT>GGAG	Pathogenic	Coding sequence variant, frameshift variant
rs863223683	->AG	Pathogenic	Coding sequence variant, frameshift variant
rs876660977	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs876660978	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs876660979	C>A,T	Pathogenic	Splice donor variant
rs876660980	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs876660981	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661061	G>A	Pathogenic	Coding sequence variant, stop gained
rs876661066	C>T	Pathogenic	Splice donor variant
rs876661095	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661096	G>A	Pathogenic	Coding sequence variant, stop gained
rs876661121	C>A,T	Pathogenic	Splice donor variant
rs876661123	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs876661126	CA>-	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs876661142	T>A	Pathogenic	Coding sequence variant, stop gained
rs876661165	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs876661182	T>A	Pathogenic	Coding sequence variant, stop gained
rs876661229	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs878853752	->A	Pathogenic	Coding sequence variant, stop gained
rs886039393	TTTCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039539	G>A	Pathogenic	Coding sequence variant, stop gained
rs886039696	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039724	GA>TT	Pathogenic	Coding sequence variant, stop gained
rs886039887	->T	Pathogenic	Coding sequence variant, frameshift variant
rs886041727	->G	Pathogenic	Coding sequence variant, frameshift variant
rs886041782	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886041868	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs886042050	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042155	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886043130	GGCG>-	Pathogenic	Coding sequence variant, frameshift variant
rs886043603	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043605	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886043606	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043869	G>T	Pathogenic	Coding sequence variant, stop gained
rs886043904	G>T	Pathogenic	Coding sequence variant, stop gained
rs886044111	->C	Pathogenic	Coding sequence variant, frameshift variant
rs886044136	G>A	Pathogenic	Coding sequence variant, stop gained
rs886044220	T>C,G	Uncertain-significance, pathogenic	Intron variant
rs886044349	C>-	Pathogenic	Splice donor variant, coding sequence variant
rs886044704	C>G,T	Uncertain-significance, pathogenic	Intron variant
rs1060501347	->A	Pathogenic	Stop gained, coding sequence variant
rs1060501349	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060501350	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501351	A>T	Pathogenic	Stop gained, coding sequence variant
rs1060501352	G>T	Pathogenic	Stop gained, coding sequence variant
rs1064796702	C>T	Pathogenic	Stop gained, coding sequence variant
rs1085307595	A>-	Pathogenic	Stop gained, coding sequence variant
rs1131691963	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1289016419	G>A,T	Uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs1294950721	C>A,T	Pathogenic	Splice donor variant
rs1437309558	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555827650	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555827653	ACTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555827717	->TGAAGGGGAAGGCTCGC	Pathogenic	Coding sequence variant, frameshift variant
rs1555827729	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1555827760	C>-	Pathogenic	Stop gained, coding sequence variant
rs1555827769	AGGGGTGGACGAAGC>TGCCCTGG	Pathogenic	Coding sequence variant, frameshift variant
rs1555827789	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555827790	CACCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555828173	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555828209	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555828250	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1555828321	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1555828546	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1555828577	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555828640	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555828646	TTCA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555828652	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs1555829037	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555829039	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555829065	T>C	Likely-pathogenic	Intron variant
rs1555829660	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555830919	A>G	Pathogenic	Splice donor variant
rs1555830922	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1555830929	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555830957	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1555830976	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555831014	C>T	Pathogenic	Initiator codon variant, missense variant
rs1568791022	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1568791393	GAGGCCGCCTCTGAACTCTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568791694	->AAGGCTC	Likely-pathogenic	Stop gained, coding sequence variant
rs1568791920	C>G	Pathogenic	Splice donor variant
rs1568792125	G>A	Pathogenic	Stop gained, coding sequence variant
rs1568792238	C>A	Pathogenic	Splice donor variant
rs1568792286	CA>-	Pathogenic	Stop gained, coding sequence variant
rs1568792344	CTC>TGCATCA	Pathogenic	Coding sequence variant, frameshift variant
rs1568793232	CTTA>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1568793265	A>T	Pathogenic	Stop gained, coding sequence variant
rs1568793309	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1568793670	C>T	Pathogenic	Splice acceptor variant
rs1568794128	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1568794159	GT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568795820	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568796158	G>A	Pathogenic	Stop gained, coding sequence variant
rs1568796236	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1568796241	TGA>G	Pathogenic	Coding sequence variant, frameshift variant
rs1568796298	T>C	Pathogenic	Splice acceptor variant
rs1568798024	G>T	Pathogenic	Stop gained, coding sequence variant
rs1568798289	CA>-	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1568798388	C>A	Pathogenic	Splice acceptor variant
rs1568801068	C>T	Pathogenic	Stop gained, coding sequence variant
rs1568801096	->A	Pathogenic	Stop gained, coding sequence variant
rs1568807044	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1568807161	T>C	Pathogenic	Splice acceptor variant
rs1568807463	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1568807483	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600178720	->GGGAAGGCTCG	Pathogenic	Coding sequence variant, frameshift variant
rs1600178730	->AGGCT	Pathogenic	Coding sequence variant, frameshift variant
rs1600179237	->GC	Pathogenic	Coding sequence variant, frameshift variant
rs1600179847	CTGTGCCCTGGAGGGCAGACACA>ATGTGC	Pathogenic	Coding sequence variant, frameshift variant
rs1600179855	A>T	Pathogenic	Stop gained, coding sequence variant
rs1600179892	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600181733	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600182107	C>T	Pathogenic	Stop gained, coding sequence variant
rs1600182812	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1600185804	->ACT	Pathogenic	Stop gained, coding sequence variant
rs1600186024	C>T	Pathogenic	Splice donor variant
rs1600196349	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1600196426	ACTGATACTCCTTGAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1600196443	T>A	Pathogenic	Stop gained, coding sequence variant
rs1600196455	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1600196580	C>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000074	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	20351093
MIRT005457	hsa-miR-200c-3p	Immunohistochemistry, qRT-PCR	21224848
MIRT000176	hsa-miR-21-5p	Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19398721
MIRT000074	hsa-miR-34a-5p	Flow, Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR	19398721
MIRT006291	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	22113133
MIRT006291	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	22113133
MIRT006291	hsa-miR-34b-3p	Luciferase reporter assay, qRT-PCR, Western blot	22113133
MIRT006846	hsa-miR-143-3p	Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21685392
MIRT006847	hsa-miR-145-5p	Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	21685392
MIRT006891	hsa-miR-524-5p	SNB19	22871495
MIRT006891	hsa-miR-524-5p	SNB19	22871495
MIRT000176	hsa-miR-21-5p	5.0	22618231
MIRT019703	hsa-miR-375	Microarray	20215506
MIRT027545	hsa-miR-98-5p	Microarray	19088304
MIRT000176	hsa-miR-21-5p	Microarray	18591254
MIRT051999	hsa-let-7b-5p	CLASH	23622248
MIRT053254	hsa-miR-199b-5p	OV2008	24659709
MIRT053254	hsa-miR-199b-5p	OV2008	24659709
MIRT053288	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	22336710
MIRT053289	hsa-miR-214-3p	Luciferase reporter assay, qRT-PCR, Western blot	22336710
MIRT000074	hsa-miR-34a-5p	Flow, In situ hybridization, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	24307639
MIRT438596	hsa-miR-199a-5p	ChIP-seq, FACS, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23764775
MIRT438596	hsa-miR-199a-5p	ChIP-seq, FACS, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23764775
MIRT438596	hsa-miR-199a-5p	ChIP-seq, FACS, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23764775
MIRT438596	hsa-miR-199a-5p	ChIP-seq, FACS, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23764775
MIRT719747	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT006891	hsa-miR-524-5p	qRT-PCR	25172935
MIRT005457	hsa-miR-200c-3p	Immunofluorescence, qRT-PCR	26302069
MIRT053254	hsa-miR-199b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27957826
MIRT053254	hsa-miR-199b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27957826
MIRT053288	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	26612211
MIRT053288	hsa-miR-124-3p	Luciferase reporter assay, qRT-PCR, Western blot	26612211
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27270422
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27270422
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27270422
MIRT732280	hsa-miR-26a-5p	Luciferase reporter assay, qRT-PCR, Western blot	27270422
MIRT733291	hsa-miR-512-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	33795521
MIRT719747	hsa-miR-3613-3p	HITS-CLIP	19536157
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT442778	hsa-miR-137	PAR-CLIP	22100165
MIRT442777	hsa-miR-4282	PAR-CLIP	22100165
MIRT442776	hsa-miR-5003-3p	PAR-CLIP	22100165
MIRT442775	hsa-miR-8063	PAR-CLIP	22100165
MIRT442774	hsa-miR-4698	PAR-CLIP	22100165
MIRT442773	hsa-miR-4480	PAR-CLIP	22100165
MIRT442772	hsa-miR-192-3p	PAR-CLIP	22100165
MIRT442771	hsa-miR-607	PAR-CLIP	22100165
MIRT442770	hsa-miR-1305	PAR-CLIP	22100165
MIRT1075885	hsa-miR-103a	CLIP-seq
MIRT1075886	hsa-miR-107	CLIP-seq
MIRT1075887	hsa-miR-1184	CLIP-seq
MIRT1075888	hsa-miR-1197	CLIP-seq
MIRT1075889	hsa-miR-1205	CLIP-seq
MIRT1075890	hsa-miR-1206	CLIP-seq
MIRT1075891	hsa-miR-1208	CLIP-seq
MIRT1075892	hsa-miR-124	CLIP-seq
MIRT1075893	hsa-miR-1297	CLIP-seq
MIRT1075894	hsa-miR-141	CLIP-seq
MIRT1075895	hsa-miR-1825	CLIP-seq
MIRT1075896	hsa-miR-200a	CLIP-seq
MIRT1075897	hsa-miR-204	CLIP-seq
MIRT1075898	hsa-miR-211	CLIP-seq
MIRT1075899	hsa-miR-26a	CLIP-seq
MIRT1075900	hsa-miR-26b	CLIP-seq
MIRT1075901	hsa-miR-297	CLIP-seq
MIRT1075902	hsa-miR-3149	CLIP-seq
MIRT1075903	hsa-miR-3158-5p	CLIP-seq
MIRT1075904	hsa-miR-3160-3p	CLIP-seq
MIRT1075905	hsa-miR-3194-3p	CLIP-seq
MIRT1075906	hsa-miR-3622a-3p	CLIP-seq
MIRT1075907	hsa-miR-3622b-3p	CLIP-seq
MIRT1075908	hsa-miR-3670	CLIP-seq
MIRT1075909	hsa-miR-3671	CLIP-seq
MIRT1075910	hsa-miR-3913-3p	CLIP-seq
MIRT1075911	hsa-miR-3973	CLIP-seq
MIRT1075912	hsa-miR-410	CLIP-seq
MIRT1075913	hsa-miR-4300	CLIP-seq
MIRT1075914	hsa-miR-4303	CLIP-seq
MIRT1075915	hsa-miR-4307	CLIP-seq
MIRT1075916	hsa-miR-4421	CLIP-seq
MIRT1075917	hsa-miR-4422	CLIP-seq
MIRT1075918	hsa-miR-4465	CLIP-seq
MIRT1075919	hsa-miR-4487	CLIP-seq
MIRT1075920	hsa-miR-4509	CLIP-seq
MIRT1075921	hsa-miR-4694-5p	CLIP-seq
MIRT1075922	hsa-miR-4716-5p	CLIP-seq
MIRT1075923	hsa-miR-4717-5p	CLIP-seq
MIRT1075924	hsa-miR-4744	CLIP-seq
MIRT1075925	hsa-miR-4753-3p	CLIP-seq
MIRT1075926	hsa-miR-4755-5p	CLIP-seq
MIRT1075927	hsa-miR-4795-5p	CLIP-seq
MIRT1075928	hsa-miR-489	CLIP-seq
MIRT1075929	hsa-miR-498	CLIP-seq
MIRT1075930	hsa-miR-506	CLIP-seq
MIRT1075931	hsa-miR-518a-5p	CLIP-seq
MIRT1075932	hsa-miR-520g	CLIP-seq
MIRT1075933	hsa-miR-520h	CLIP-seq
MIRT1075934	hsa-miR-527	CLIP-seq
MIRT1075935	hsa-miR-548an	CLIP-seq
MIRT1075936	hsa-miR-558	CLIP-seq
MIRT1075937	hsa-miR-567	CLIP-seq
MIRT1075938	hsa-miR-579	CLIP-seq
MIRT1075939	hsa-miR-593	CLIP-seq
MIRT1075940	hsa-miR-623	CLIP-seq
MIRT1075941	hsa-miR-628-5p	CLIP-seq
MIRT1075942	hsa-miR-634	CLIP-seq
MIRT1075943	hsa-miR-920	CLIP-seq
MIRT1075944	hsa-miR-922	CLIP-seq
MIRT1550358	hsa-miR-520d-5p	CLIP-seq
MIRT1075885	hsa-miR-103a	CLIP-seq
MIRT1075886	hsa-miR-107	CLIP-seq
MIRT1075887	hsa-miR-1184	CLIP-seq
MIRT1075889	hsa-miR-1205	CLIP-seq
MIRT1075893	hsa-miR-1297	CLIP-seq
MIRT1075899	hsa-miR-26a	CLIP-seq
MIRT1075900	hsa-miR-26b	CLIP-seq
MIRT2018832	hsa-miR-27a	CLIP-seq
MIRT2018833	hsa-miR-27b	CLIP-seq
MIRT1075903	hsa-miR-3158-5p	CLIP-seq
MIRT1075905	hsa-miR-3194-3p	CLIP-seq
MIRT2018834	hsa-miR-3545-3p	CLIP-seq
MIRT1075906	hsa-miR-3622a-3p	CLIP-seq
MIRT1075907	hsa-miR-3622b-3p	CLIP-seq
MIRT2018835	hsa-miR-3691-3p	CLIP-seq
MIRT2018836	hsa-miR-377	CLIP-seq
MIRT1075910	hsa-miR-3913-3p	CLIP-seq
MIRT2018837	hsa-miR-4267	CLIP-seq
MIRT2018838	hsa-miR-4277	CLIP-seq
MIRT2018839	hsa-miR-4323	CLIP-seq
MIRT1075916	hsa-miR-4421	CLIP-seq
MIRT1075918	hsa-miR-4465	CLIP-seq
MIRT2018840	hsa-miR-4494	CLIP-seq
MIRT2018841	hsa-miR-4635	CLIP-seq
MIRT2018842	hsa-miR-4661-5p	CLIP-seq
MIRT2018843	hsa-miR-4691-5p	CLIP-seq
MIRT2018844	hsa-miR-4726-3p	CLIP-seq
MIRT1075925	hsa-miR-4753-3p	CLIP-seq
MIRT1075928	hsa-miR-489	CLIP-seq
MIRT2018845	hsa-miR-499a-5p	CLIP-seq
MIRT2018846	hsa-miR-513a-5p	CLIP-seq
MIRT2018847	hsa-miR-548ac	CLIP-seq
MIRT2018848	hsa-miR-548d-3p	CLIP-seq
MIRT2018849	hsa-miR-548z	CLIP-seq
MIRT1075938	hsa-miR-579	CLIP-seq
MIRT1075939	hsa-miR-593	CLIP-seq
MIRT1075941	hsa-miR-628-5p	CLIP-seq
MIRT1075942	hsa-miR-634	CLIP-seq
MIRT1075944	hsa-miR-922	CLIP-seq
MIRT1075888	hsa-miR-1197	CLIP-seq
MIRT1075890	hsa-miR-1206	CLIP-seq
MIRT1075894	hsa-miR-141	CLIP-seq
MIRT1075896	hsa-miR-200a	CLIP-seq
MIRT1075901	hsa-miR-297	CLIP-seq
MIRT1075902	hsa-miR-3149	CLIP-seq
MIRT2250751	hsa-miR-34a	CLIP-seq
MIRT2250752	hsa-miR-34c-5p	CLIP-seq
MIRT1075911	hsa-miR-3973	CLIP-seq
MIRT1075912	hsa-miR-410	CLIP-seq
MIRT2250753	hsa-miR-412	CLIP-seq
MIRT2250754	hsa-miR-449a	CLIP-seq
MIRT2250755	hsa-miR-449b	CLIP-seq
MIRT1550358	hsa-miR-520d-5p	CLIP-seq
MIRT2250756	hsa-miR-548l	CLIP-seq
MIRT1075937	hsa-miR-567	CLIP-seq
MIRT1075938	hsa-miR-579	CLIP-seq
MIRT2250757	hsa-miR-586	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
KDM4C	Activation	23698634
PPARG	Unknown	20436223
RUNX3	Repression	21637926
SNAI2	Activation	20509143

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	NAS	8955070
GO:0001709	Process	Cell fate determination	NAS	9207788
GO:0001953	Process	Negative regulation of cell-matrix adhesion	IDA	11549580
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0002011	Process	Morphogenesis of an epithelial sheet	IEA
GO:0002085	Process	Inhibition of neuroepithelial cell differentiation	IEA
GO:0002456	Process	T cell mediated immunity	IMP	23086448
GO:0003180	Process	Aortic valve morphogenesis	NAS	20951801
GO:0003184	Process	Pulmonary valve morphogenesis	IMP	9207787, 20437614
GO:0003215	Process	Cardiac right ventricle morphogenesis	IEA
GO:0003215	Process	Cardiac right ventricle morphogenesis	ISS
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	11006133
GO:0005112	Function	Notch binding	NAS	9268641
GO:0005198	Function	Structural molecule activity	NAS	10679295
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	18660822, 23086448
GO:0005543	Function	Phospholipid binding	IMP	22465068
GO:0005576	Component	Extracellular region	NAS	11427524
GO:0005886	Component	Plasma membrane	IDA	20437614, 32065591
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	11427524
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0007154	Process	Cell communication	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007219	Process	Notch signaling pathway	IMP	9207787, 19682396, 20437614
GO:0007219	Process	Notch signaling pathway	ISS
GO:0007219	Process	Notch signaling pathway	NAS	9268641
GO:0007399	Process	Nervous system development	NAS	8923452
GO:0008083	Function	Growth factor activity	NAS	11067884
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IMP	22465068
GO:0016020	Component	Membrane	TAS	9268641
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022408	Process	Negative regulation of cell-cell adhesion	IDA	11549580
GO:0030097	Process	Hemopoiesis	NAS	10329626
GO:0030182	Process	Neuron differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	NAS	12107827
GO:0030336	Process	Negative regulation of cell migration	IDA	11549580
GO:0032495	Process	Response to muramyl dipeptide	IEA
GO:0035909	Process	Aorta morphogenesis	IEA
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0042127	Process	Regulation of cell population proliferation	NAS	10329626
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045445	Process	Myoblast differentiation	NAS	10329626
GO:0045446	Process	Endothelial cell differentiation	NAS	10329626
GO:0045596	Process	Negative regulation of cell differentiation	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0045602	Process	Negative regulation of endothelial cell differentiation	IEA
GO:0045639	Process	Positive regulation of myeloid cell differentiation	IEA
GO:0045665	Process	Negative regulation of neuron differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	20437614
GO:0048513	Process	Animal organ development	IEA
GO:0048731	Process	System development	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0050678	Process	Regulation of epithelial cell proliferation	IEA
GO:0060090	Function	Molecular adaptor activity	EXP	16427310
GO:0060090	Function	Molecular adaptor activity	IDA	16427310
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISS
GO:0061073	Process	Ciliary body morphogenesis	IEA
GO:0061101	Process	Neuroendocrine cell differentiation	IEA
GO:0061156	Process	Pulmonary artery morphogenesis	IMP	9207787
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	IEA
GO:0061309	Process	Cardiac neural crest cell development involved in outflow tract morphogenesis	ISS
GO:0061444	Process	Endocardial cushion cell development	IEA
GO:0061444	Process	Endocardial cushion cell development	ISS
GO:0062043	Process	Positive regulation of cardiac epithelial to mesenchymal transition	ISS
GO:0072006	Process	Nephron development	IEA
GO:0072006	Process	Nephron development	ISS
GO:0072015	Process	Podocyte development	IEA
GO:0072015	Process	Podocyte development	ISS
GO:0072017	Process	Distal tubule development	IEA
GO:0072070	Process	Loop of Henle development	IEA
GO:0097150	Process	Neuronal stem cell population maintenance	IEP	19682396
GO:2000737	Process	Negative regulation of stem cell differentiation	IMP	19682396

Other IDs

• MIM: 601920
• HGNC: 6188
• e!Ensembl: ENSG00000101384

Protein

• UniProt ID: P78504
• Protein name: Protein jagged-1 (Jagged1) (hJ1) (CD antigen CD339)
• Protein function: Ligand for multiple Notch receptors and involved in the mediation of Notch signaling (PubMed:18660822, PubMed:20437614). May be involved in cell-fate decisions during hematopoiesis (PubMed:9462510). Seems to be involved in early and late stages
• PDB: 2KB9, 2VJ2, 4CBZ, 4CC0, 4CC1, 4XI7, 5BO1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07657	MNNL	32 → 107	N terminus of Notch ligand	Family
  PF01414	DSL	167 → 229	Delta serrate ligand	Domain
  PF00008	EGF	300 → 332	EGF-like domain	Domain
  PF00008	EGF	340 → 370	EGF-like domain	Domain
  PF00008	EGF	378 → 408	EGF-like domain	Domain
  PF07645	EGF_CA	412 → 450	Calcium-binding EGF domain	Domain
  PF00008	EGF	450 → 483	EGF-like domain	Domain
  PF00008	EGF	491 → 521	EGF-like domain	Domain
  PF00008	EGF	529 → 559	EGF-like domain	Domain
  PF00008	EGF	633 → 663	EGF-like domain	Domain
  PF00008	EGF	671 → 701	EGF-like domain	Domain
  PF00008	EGF	748 → 777	EGF-like domain	Domain
  PF00008	EGF	786 → 816	EGF-like domain	Domain
  PF12661	hEGF	829 → 849	Human growth factor-like EGF	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. In cervix epithelium expressed in undifferentiated subcolumnar reserve cells and squamous metaplasia. Expression is up-regulated in cervical squamous cell carcinoma. Expressed in bone marrow
• Sequence:

  MRSPRTRGRSGRPLSLLLALLCALRAKVCGASGQFELEILSMQNVNGELQNGNCCGGARN
  PGDRKCTRDECDTYFKVCLKEYQSRVTAGGPCSFGSGSTPVIGGNTFNLKASRGNDRNRI
  VLPFSFAWPRSYTLLVEAWDSSNDTVQPDSIIEKASHSGMINPSRQWQTLKQNTGVAHFE
  YQIRVTCDDYYYGFGCNKFCRPRDDFFGHYACDQNGNKTCMEGWMGPECNRAICRQGCSP
  KHGSCKLPGDCRCQYGWQGLYCDKCIPHPGCVHGICNEPWQCLCETNWGGQLCDKDLNYC
  GTHQPCLNGGTCSNTGPDKYQCSCPEGYSGPNCEIAEHACLSDPCHNRGSCKETSLGFEC
  ECSPGWTGPTCSTNIDDCSPNNCSHGGTCQDLVNGFKCVCPPQWTGKTCQLDANECEAKP
  CVNAKSCKNLIASYYCDCLPGWMGQNCDININDCLGQCQNDASCRDLVNGYRCICPPGYA
  GDHCERDIDECASNPCLNGGHCQNEINRFQCLCPTGFSGNLCQLDIDYCEPNPCQNGAQC
  YNRASDYFCKCPEDYEGKNCSHLKDHCRTTPCEVIDSCTVAMASNDTPEGVRYISSNVCG
  PHGKCKSQSGGKFTCDCNKGFTGTYCHENINDCESNPCRNGGTCIDGVNSYKCICSDGWE
  GAYCETNINDCSQNPCHNGGTCRDLVNDFYCDCKNGWKGKTCHSRDSQCDEATCNNGGTC
  YDEGDAFKCMCPGGWEGTTCNIARNSSCLPNPCHNGGTCVVNGESFTCVCKEGWEGPICA
  QNTNDCSPHPCYNSGTCVDGDNWYRCECAPGFAGPDCRININECQSSPCAFGATCVDEIN
  GYRCVCPPGHSGAKCQEVSGRPCITMGSVIPDGAKWDDDCNTCQCLNGRIACSKVWCGPR
  PCLLHKGHSECPSGQSCIPILDDQCFVHPCTGVGECRSSSLQPVKTKCTSDSYYQDNCAN
  ITFTFNKEMMSPGLTTEHICSELRNLNILKNVSAEYSIYIACEPSPSANNEIHVAISAED
  IRDDGNPIKEITDKIIDLVSKRDGNSSLIAAVAEVRVQRRPLKNRTDFLVPLLSSVLTVA
  WICCLVTAFYWCLRKRRKPGSHTHSASEDNTTNNVREQLNQIKNPIEKHGANTVPIKDYE
  NKNSKMSKIRTHNSEVEEDDMDKHQQKARFAKQPAYTLVDREEKPPNGTPTKHPNWTNKQ
  DNRDLESAQSLNRMEYIV

• Sequence length: 1218

Pathways

KEGG:

Endocrine resistance
Notch signaling pathway
Apelin signaling pathway
Th1 and Th2 cell differentiation
TNF signaling pathway
Human papillomavirus infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Breast cancer

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
Constitutive Signaling by NOTCH1 HD Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
RUNX3 regulates NOTCH signaling
NOTCH3 Activation and Transmission of Signal to the Nucleus

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Alagille syndrome due to a JAG1 point mutation	Pathogenic; Likely pathogenic	rs2067293664, rs2067268275, rs2122608799, rs2122597276, rs1555827782, rs2122607604, rs2122593684, rs2122595262, rs2122595945, rs2122597170, rs2122602312, rs2122606192, rs2122606277, rs2122610459, rs764485729, rs2122613554, rs2122620277, rs1286744339, rs2122623531, rs2122644538, rs2122602509, rs1189479619, rs2122613705, rs1294950721, rs2122597239, rs2122595901, rs2122607772, rs2122607689, rs2122596452, rs2122595645, rs35615084, rs2122597289, rs2122607723, rs2122644940, rs1411780867, rs2122606113, rs2122614368, rs2122623590, rs2122595154, rs2122606128, rs2122600427, rs1568798388, rs2122614453, rs2122644925, rs2122600550, rs2122595693, rs2122602893, rs2122608790, rs2122615158, rs2122595010, rs2122608890, rs2122609680, rs2122597347, rs2122611660, rs2122603085, rs2122623497, rs781509375, rs2122600431, rs2122614562, rs2122606213, rs2122632102, rs2514521362, rs868134621, rs2514526460, rs2514518351, rs2514513274, rs2514521758, rs2514524510, rs2514537935, rs2514538137, rs2514537708, rs202109974, rs2514538931, rs2514537903, rs727504412, rs780475862, rs2514519192, rs2514514441, rs2514507703, rs2514510396, rs2514519179, rs2514524480, rs2514526436, rs979265484, rs2514516613, rs2514509662, rs2514511621, rs2514521753, rs2514519182, rs2514512962, rs2514517120, rs2514531153, rs2514516649, rs2514513412, rs863223677, rs1555827789, rs1555828173, rs863223655, rs1555828843, rs863223650, rs863223649, rs863223648, rs863223667, rs1555831014, rs2514515688, rs2514521326, rs2514538103, rs886041727, rs2514510500, rs2514526725, rs1568792286, rs1568791920, rs876660978, rs1568795820, rs121918350, rs121918351, rs886039393, rs28939668, rs121918352, rs755427292, rs876660981, rs533306015, rs876661096, rs876660980, rs2514508349, rs1555828546, rs878853752, rs886039724, rs886039887, rs886041782, rs2514506380, rs2514538986, rs886043603, rs886043606, rs886043869, rs886044111, rs886044136, rs2514538001, rs2514524519, rs2514510557, rs886044220, rs2514515706, rs2514513693, rs2514524411, rs2514511557, rs2514509570, rs2514511639, rs2514521680, rs2514537675, rs2514508344, rs2514513551, rs2514509209, rs2514508367, rs2514509626, rs2514538133, rs2514516680, rs2514537639, rs2514507971, rs2514512834, rs2514509368, rs1261578129, rs2514521818, rs2514517214, rs2514508256, rs2514514448, rs2514517345, rs2514517227, rs2514508523, rs2067325167, rs2514538159, rs2514537928, rs2514521287, rs2514517119, rs2514517862, rs2514509543, rs2514515739, rs2514519130, rs2514513565, rs2514526656, rs2514516628, rs2514515620, rs2067513720, rs2514513311, rs2514512861, rs1060501349, rs372984801, rs1060501352, rs1060501347, rs1060501350, rs1060501351, rs1555827729, rs1555829660, rs1555827653, rs1555828209, rs1555828321, rs886044704, rs1437309558, rs1555829415, rs1555829037, rs1555830929, rs1555827769, rs1568794128, rs1568796241, rs1568796883, rs1568807161, rs876660979, rs1600178720, rs1568796236, rs1568793309, rs1600178730, rs1600179855, rs1600179892, rs1600182107, rs1600182812, rs1289016419, rs1600185499, rs1600196443, rs1600196580, rs1600186024, rs2067328461, rs2067273607, rs2067301859, rs2067320699, rs2067321711, rs2067336398, rs2067347395, rs2067393679, rs2067394045, rs2067513100, rs566563238, rs2067274453, rs2067434779, rs759763539, rs2067347502, rs2067265104, rs2067268487, rs2067324506, rs2067337118, rs2067346904, rs2067393549, rs2067434947, rs2067508256, rs2067270959, rs2067297301, rs1801138, rs2067296758	RCV001329703 RCV005256773 RCV001375478 RCV001376239 RCV001376921 RCV001376996 RCV001381404 RCV001383277 RCV001385742 RCV001384082 RCV001389094 RCV001387394 RCV001383128 RCV001384590 RCV001387935 RCV001386228 RCV001382741 RCV001388474 RCV001386067 RCV001381574 RCV001796554 RCV001580380 RCV001771819 RCV003330100 RCV001807916 RCV001808235 RCV001837375 RCV001863756 RCV001902789 RCV001999745 RCV001902823 RCV001890870 RCV001950790 RCV001908477 RCV002010651 RCV001942649 RCV001997021 RCV002049610 RCV001893572 RCV001864598 RCV001994181 RCV002016997 RCV001894150 RCV001949497 RCV001956444 RCV001912315 RCV001904678 RCV001947046 RCV001901512 RCV001959029 RCV001935821 RCV001958736 RCV001935366 RCV001863650 RCV001913457 RCV002227302 RCV002244289 RCV002250059 RCV002250061 RCV002273270 RCV003509709 RCV002280320 RCV003619761 RCV002283618 RCV002283978 RCV002285212 RCV002285218 RCV002285219 RCV002285220 RCV002285221 RCV002285222 RCV002285223 RCV002285224 RCV002291489 RCV000154602 RCV003097407 RCV002471952 RCV002471967 RCV003064601 RCV003064602 RCV003050552 RCV003041382 RCV003041383 RCV002601847 RCV002833054 RCV002820560 RCV002797000 RCV002828571 RCV002856587 RCV002851766 RCV002851779 RCV002852850 RCV002881093 RCV002894532 RCV004760426 RCV001384081 RCV001853159 RCV001038520 RCV000008061 RCV001853158 RCV000645012 RCV000817591 RCV001853157 RCV002284195 RCV001210761 RCV002937864 RCV002957348 RCV002975954 RCV002979699 RCV003003027 RCV003006307 RCV003030360 RCV000008054 RCV000008055 RCV000008056 RCV000008057 RCV000008058 RCV000008059 RCV000008060 RCV000555146 RCV000008064 RCV002519743 RCV000008066 RCV000468229 RCV002516193 RCV000820770 RCV003108238 RCV003153042 RCV000233877 RCV003223400 RCV000256399 RCV005031846 RCV003234986 RCV003236633 RCV000342012 RCV000370816 RCV005860057 RCV001204274 RCV002518076 RCV003314444 RCV003315128 RCV003315191 RCV001218520 RCV003493997 RCV003493998 RCV003493999 RCV003494000 RCV003319945 RCV003327324 RCV003333389 RCV003333676 RCV003337743 RCV003509849 RCV003509852 RCV003510922 RCV003510842 RCV003509211 RCV003509032 RCV003509034 RCV003509405 RCV003510208 RCV003510425 RCV003620659 RCV003620913 RCV003620967 RCV003620845 RCV003620907 RCV003620854 RCV003621078 RCV003621169 RCV003621289 RCV003621390 RCV003621269 RCV003621443 RCV003619411 RCV003838020 RCV003871837 RCV003885404 RCV003985953 RCV003986036 RCV003988989 RCV003989057 RCV003990626 RCV004006216 RCV004555511 RCV004593656 RCV004594976 RCV000461222 RCV000468292 RCV000470074 RCV000459799 RCV000461685 RCV000476270 RCV000469116 RCV000553685 RCV000558408 RCV000594760 RCV005091558 RCV002289890 RCV000625818 RCV000645020 RCV000645018 RCV000645011 RCV000645010 RCV000645013 RCV000685179 RCV000708596 RCV000722169 RCV003509594 RCV003319416 RCV003319417 RCV001855796 RCV002499382 RCV000757958 RCV000799333 RCV000811911 RCV000807681 RCV000823654 RCV000803679 RCV000823114 RCV000792631 RCV000819337 RCV000793200 RCV000990290 RCV001030431 RCV001066608 RCV001052880 RCV001045941 RCV001035535 RCV001061199 RCV001057664 RCV001048193 RCV001054177 RCV001049155 RCV002554668 RCV005861200 RCV001216801 RCV001219403 RCV001223061 RCV001212752 RCV001211558 RCV001217723 RCV001230121 RCV001232034 RCV001245553 RCV001243494 RCV001240172 RCV001238101 RCV001248635 RCV001281184 RCV001251042 RCV001281362 RCV001289549	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arteriohepatic dysplasia	Likely pathogenic; Pathogenic	rs1294950721, rs2122644925, rs2514538137, rs2514537903, rs727504412, rs2514526436, rs2514531153, rs863223650, rs121918351, rs121918352, rs886039539, rs2514538986, rs2514537675, rs1555827650, rs1568791694	RCV005414339 RCV005002170 RCV005002175 RCV005002176 RCV000844632 RCV005002182 RCV005002180 RCV005414324 RCV005002140 RCV005002141 RCV005414325 RCV005002184 RCV005002185 RCV000627057 RCV000761246	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atypical coarctation of aorta	Pathogenic; Likely pathogenic	rs1555827789, rs863223648, rs1600181733, rs1600184363	RCV000845198 RCV000845195 RCV000845197 RCV000845196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs2514507762, rs2514517294, rs746259131, rs780475862, rs1555828721, rs1555829065, rs1600185499, rs2067324506	RCV002322653 RCV002391897 RCV002395082 RCV002423726 RCV002383649 RCV004024839 RCV002397567 RCV002402725	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, axonal, Type 2HH	Pathogenic; Likely pathogenic	rs2122606362, rs2122604480, rs1294950721, rs2122607723, rs863223655, rs121918350, rs121918351, rs886039393, rs876660980, rs886041782, rs2514508367, rs1568796236, rs1568794128	RCV001731244 RCV001731245 RCV005038328 RCV006442476 RCV005025314 RCV005031418 RCV002476943 RCV005031419 RCV005025367 RCV005031846 RCV005036859 RCV002499382 RCV005029621	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Pathogenic	rs2514520753	RCV004798960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, congenital heart defects, and posterior embryotoxon	Likely pathogenic; Pathogenic	rs1294950721, rs863223655, rs121918350, rs121918351, rs886039393, rs121918353, rs876660980, rs886041782, rs2514508367, rs1568796236, rs1568794128	RCV005038328 RCV005025314 RCV005031418 RCV002476943 RCV005031419 RCV000008065 RCV005025367 RCV005031846 RCV005036859 RCV002499382 RCV005029621	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic	rs2122603096	RCV002251309	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart, malformation of	Pathogenic	rs727504412	RCV000844632	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic Ductular Hypoplasia	Likely pathogenic	rs756911979, rs2122595849	RCV001849644 RCV001849645	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatoblastoma	Likely pathogenic	rs2514506387	RCV003991554	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JAG1-related disorder	Pathogenic; Likely pathogenic	rs727504412, rs2514516649, rs863223655, rs863223650, rs863223648, rs121918350, rs876660980, rs1555828546, rs886043606, rs2514526624, rs2514538027, rs2514521775, rs2514507811, rs2514509349, rs2514515560, rs2514507734, rs886043605, rs2514526520, rs2514517243, rs2514508367, rs2514509626, rs2514509650, rs368734792, rs2514513715, rs2514510515, rs2067320699	RCV004551336 RCV003336779 RCV004553068 RCV004553066 RCV004553065 RCV004739294 RCV004547565 RCV004741463 RCV004739659 RCV003335979 RCV004550772 RCV004552591 RCV004554175 RCV004554180 RCV004548632 RCV004550741 RCV004552467 RCV004554155 RCV004554113 RCV004554248 RCV004723359 RCV004548960 RCV004548749 RCV004548918 RCV004554450 RCV004548074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2067293664	RCV005911079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs2067293664, rs2067434947	RCV005911080 RCV005909128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2067513100	RCV001073553	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tetralogy of Fallot	Pathogenic; Likely pathogenic	rs2067268275, rs1294950721, rs727504412, rs863223655, rs121918350, rs121918351, rs886039393, rs28939668, rs876660981, rs876660980, rs886041782, rs886044220, rs2514508367, rs1568796236, rs1568794128, rs2067506937	RCV001335178 RCV005038328 RCV001197474 RCV005025314 RCV005031418 RCV002476943 RCV005031419 RCV000008063 RCV003998613 RCV005025367 RCV005031846 RCV004021282 RCV005036859 RCV002499382 RCV005029621 RCV001196540	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALAGILLE SYNDROME 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic dilatation	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAKUT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital anomaly of kidney and urinary tract	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conotruncal heart malformations	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL OPACITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DEFECTS, CONGENITAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated Nonsyndromic Congenital Heart Disease	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIDDLE AORTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pes planus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SALIVARY GLAND NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS, UNSPECIFIED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	15694671		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	20157766, 23455394		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21447180, 24086717, 27174628, 27345403, 28788071, 29559312, 29921897		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	21145176, 28165396, 28788071, 29457735		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25979380, 30065304		★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22427350, 26548814		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	22427350	Associate	★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	24708907		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	30231940		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	22427350, 27084744		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	10827106, 12624136, 35551623	Associate	★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	22427350	Associate	★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	22427350	Stimulate	★☆☆☆☆ Found in Text Mining only
AICARDI-GOUTIERES SYNDROME	Aicardi Goutieres Syndrome	BEFREE	10213047, 10533065, 10534349, 10590916, 10827106, 10874319, 10960452, 11058898, 11180599, 11232356, 11313761, 11568926, 12239725, 12244551, 12297837, 12427653, 12442286, 12497640, 12649809, 14684686, 15712272, 15772854, 15908569, 16575836, 16773578, 16845398, 17357087, 17720887, 19058200, 20437614, 21714972, 21726900, 27914788, 28566723, 29030706, 30074189, 30761079, 31298406, 9207787, 9585603, 9700188		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	10075489, 10213047, 10220506, 10429362, 10533065, 10534349, 10874319, 10960452, 10978356, 11058898, 11139239, 11139247, 11152664, 11180599, 11313761, 11359464, 11568926, 11745040, 12022040, 12239725, 12244552, 12244555, 12297837, 12372254, 12427653, 12442286, 12497640, 12649809, 14684686, 14993126, 15001122, 15307138, 15389319, 15772854, 16013021, 16575836, 16773578, 17241866, 17414143, 17720887, 17949281, 18410944, 18775522, 19780835, 19948535, 20042397, 20437614, 20727876, 21671386, 21752016, 21934706, 22105858, 22156581, 22209762, 22405927, 22487239, 22488849, 23086448, 23657910, 23956173, 24271660, 24748328, 24825276, 25643021, 26026399, 26076142, 26235536, 26339425, 26548814, 26618708, 26760175, 27967296, 28141679, 28566723, 28600057, 28695677, 28878125, 28974684, 29162437, 29187043, 29536580, 29956768, 30074189, 30202046, 30529759, 30746957, 30761079, 30791938, 31296176, 31343788, 31469182, 9207787, 9207788, 9268641, 9467007, 9585603, 9700188		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	CLINVAR_DG	10220506, 12442286, 15712272, 26076142, 9207788		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille syndrome	Pubtator	10978356, 12649809, 14684686, 15190647, 16773578, 17241866, 19058200, 19948535, 21671386, 22105858, 22336710, 22487239, 22488849, 24748328, 24825276, 26076142, 26339425, 26618708, 28600057, 28683534, 28878125, 29536580, 30543192, 31296176, 31343788, 31835735, 32475824, 33008311, 33077891, 33369123, 33465531, 34087995, 34185059, 34198154, 35562782, 35761784, 35819173, 36447191, 36742021, 37099537, 37101309, 37245339, 37511516, 37549562, 37774637, 37895297, 38245625, 39244638, 39719802, 40225158, 40634917	Associate	★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	LHGDN	12497640, 16013021, 16575836, 17720887, 18266235		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	CTD_human_DG	21532573, 9207787, 9207788		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	GENOMICS_ENGLAND_DG	23881058, 29530693		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome 1	Alagille Syndrome	UNIPROT_DG	10220506, 10533065, 11058898, 11139247, 11157803, 11180599, 12442286, 12497640, 15712272, 16575836, 20437614, 23801938, 9207788, 9585603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alagille Syndrome 1	Alagille Syndrome	CLINVAR_DG	10220506, 10533065, 11058898, 12442286, 15712272, 16575836, 22487239, 22488849, 24748328, 25525159, 25676721, 26076142, 26548814, 9207788, 9585603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alagille Syndrome 1	Alagille Syndrome	CTD_human_DG	21532573, 9207787, 9207788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alagille Syndrome 1	Alagille Syndrome	GENOMICS_ENGLAND_DG	22105858, 22759690, 23881058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alagille Syndrome 1	Alagille Syndrome	BEFREE	26760175		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alagille Syndrome 2	Alagille Syndrome	CTD_human_DG	21532573, 9207787, 9207788		★☆☆☆☆ Found in Text Mining only
Alagille syndrome due to 20p12 microdeletion	Alagille Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Alagille syndrome due to a JAG1 point mutation	Alagille Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30391960, 31030096		★☆☆☆☆ Found in Text Mining only
alpha Thalassemia	Alpha thalassemia	Pubtator	35119136	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36214709	Associate	★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	20337864		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	28848392		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30010003		★☆☆☆☆ Found in Text Mining only
Anencephaly	Anencephaly	Pubtator	24634123	Associate	★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	35819173	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	35819173	Associate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	BEFREE	12239725		★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	16013021		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	22427350, 27084744		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26648562, 30584451		★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations, Cerebral	Cerebral arteriovenous malformation	BEFREE	21437931		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	19265135		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37796367	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	12427653		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17142250, 26026399, 28111308		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35140898	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26648562, 30584451		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atypical Ductal Breast Hyperplasia	Breast Hyperplasia	BEFREE	26971121		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	19058200	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18030350, 31704879		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	31704879		★☆☆☆☆ Found in Text Mining only
Axenfeld anomaly (disorder)	Axenfeld anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	26987289		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	25558829		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	25558829	Inhibit	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	26926447, 34818353	Associate	★☆☆☆☆ Found in Text Mining only
Bilateral vocal cord paralysis	Vocal Cord Paralysis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	LHGDN	12297837		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary Atresia	BEFREE	28416017, 28688656, 28695677, 29388792, 30196281		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	28416017	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	28090501		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25008565, 25955824		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	22174012	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	27463014		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	CTD_human_DG	9207788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	25008565, 28235715		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15192074, 16166334, 17507991, 17984306, 17990101, 19915977, 21199807, 21224848, 22002679, 22618231, 23319603, 25645291, 26548814, 26945854, 26971121, 28625320, 28734865, 29564971, 29636067, 29895705, 30576770, 30993885		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17507991, 17984306, 18167335, 18563556, 20509143, 23934482, 25645291, 25881039, 27651315, 28422875, 30587589, 32046779, 36539520	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	20030805, 21224848	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	25623554		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	28617871		★☆☆☆☆ Found in Text Mining only
C1q DEFICIENCY	C1q Deficiency	BEFREE	22224765		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	14714274, 36142458	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL Syndrome	CADASIL Syndrome	BEFREE	10075489, 14714274		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12496248, 35263601	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1370479, 20359736		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	24238845, 36450256	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12097419, 22488108, 23651211, 27832779, 30536310, 30660174	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28258914	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25955824		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	25368251		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17804716, 23582784, 26930648, 29742069		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	21922151	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35673567	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22506064, 26045747, 32432737, 37735297	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28259916		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21753153, 30993885, 31182109		★☆☆☆☆ Found in Text Mining only
Carcinoma, Pancreatic Ductal	Pancreatic Ductal Carcinoma	CTD_human_DG	19208345		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiac defects	Cardiac Defects	BEFREE	20437614		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37833902	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22151989, 29318144		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	21156405	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	28622289, 28937685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	35758265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	36426373	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	25842263, 29921897, 30867779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	20351093, 25842263, 29921897, 30867779		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	24708907		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	15389319, 26076142		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	17241866, 20683201, 26339425, 37099537	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cholestasis Intrahepatic	Intrahepatic cholestasis	Pubtator	17241866	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis, progressive familial intrahepatic 1	Intrahepatic cholestasis	BEFREE	17241866, 31296176		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	21156405	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	20351093		★☆☆☆☆ Found in Text Mining only
Chorioretinal atrophy	Chorioretinal atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16013021		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16013021		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	18796623, 24170027, 30478302		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30259982		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12000721		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	35385219	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	22543857, 24722295, 28637464		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19325125, 23375636, 23419361, 23698634, 24677392, 24722295, 26277021, 26650241, 29254197, 29286145, 29308884, 30666650, 31155566, 31704837, 31717557		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12097419, 12193752, 22219033, 26650241, 26744411, 27589478, 27983919, 29286145, 29703930, 32751332	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24265293	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	24634123	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	15389319		★☆☆☆☆ Found in Text Mining only
Congenital atresia of extrahepatic bile duct	Extrahepatic Biliary Atresia	BEFREE	12297837, 28416017, 28572448, 28688656, 28695677, 29388792, 30196281		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	10213047, 12022040, 23956173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CLINVAR_DG	10220506, 12442286, 15712272, 9207788		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	LHGDN	12022040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Heart Defects	Congenital heart defects	CTD_human_DG	12022040		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	26760175		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	38245625	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30219518		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18079963, 21062756		★☆☆☆☆ Found in Text Mining only
Corneal Dystrophy, Band-Shaped	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	31545483		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	15389319		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	17922128	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	12244552, 20727876, 29437519		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	26802079	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deaf Mutism	Deafness	CTD_human_DG	12022040		★☆☆☆☆ Found in Text Mining only
Deafness Congenital Heart Defects and Posterior Embryotoxon	Deafness with congenital heart defects and posterior embryotoxon	Pubtator	37511516	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Acquired	Deafness	CTD_human_DG	12022040		★☆☆☆☆ Found in Text Mining only
Deafness, Congenital Heart Defects, and Posterior Embryotoxon	Deafness, Congenital Heart Defects, And Posterior Embryotoxon	UNIPROT_DG	12022040, 20437614		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness, Congenital Heart Defects, and Posterior Embryotoxon	Deafness, Congenital Heart Defects, And Posterior Embryotoxon	CLINVAR_DG	20437614		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness, Congenital Heart Defects, and Posterior Embryotoxon	Deafness, Congenital Heart Defects, And Posterior Embryotoxon	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Degenerative polyarthritis	Arthritis	LHGDN	18354251		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23319657, 29940267		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28848392, 30708185		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29596844	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	10075489, 26760175		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	19058200	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28045060, 30787185, 31345231		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27407072, 28045060, 30787185, 31345231		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28045060	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34219868	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34219868	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21103979		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	27407072		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry Eye Syndromes	BEFREE	19011014		★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	19011014	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	22274139		★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	36214709	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	18446845		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31308481		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29105300, 29274430		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	32252688	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	30543192	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Exudative Vitreoretinopathy	Exudative Vitreoretinopathy	BEFREE	31273345		★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrosarcoma	Fibrosarcoma	BEFREE	20428807		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28977825, 30920297		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	27174628		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	24147811, 24481712, 25008565, 26393583, 27914788, 29308884, 29741393		★☆☆☆☆ Found in Text Mining only
Gastric ulcer	Gastric ulcer	BEFREE	28154253		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	21220737		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CTD_human_DG	21127729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	22296176, 25514871, 28445154, 30580328		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	23787764, 25514871, 26662803, 33249476	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	25557173	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	21127729		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22296176, 25514871, 28445154, 30580328		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15781650, 22871495, 25514871, 25721045, 28950865, 29030706, 29501773, 30580328		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15781650		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25192910, 25514871	Associate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	20555348		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	20555348	Stimulate	★☆☆☆☆ Found in Text Mining only
Hajdu-Cheney Syndrome	Hajdu-Cheney Syndrome	BEFREE	22002679		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	30816994		★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	20517681		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	31704879		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	20517681		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	12649809	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30219518		★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	20069356		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	37565874	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic ductular hypoplasia	Arteriohepatic dysplasia	BEFREE	10960452		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic ductular hypoplasia	Arteriohepatic dysplasia	CTD_human_DG	21532573, 9207787, 9207788		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydronephrosis	Hydronephrosis	Pubtator	37511516	Associate	★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	26235536		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	27967296		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30787185		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	31345231		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32854392	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	16013021, 18370232, 25150869		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	26760175		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	22363487, 25166211	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	31686456	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	17498688		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	29230705		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	28946811		★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	21757656		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	34565297	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	19935714		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis	Intrahepatic Cholestasis	BEFREE	17241866		★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	22151989, 26971121		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19816565		★☆☆☆☆ Found in Text Mining only
Kaufman-McKusick syndrome	Kaufman-McKusick Syndrome	BEFREE	9467007		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12039979, 30226866		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20531454, 24798563, 26076142	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	16013021		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16013021		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	20096396	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	27532668	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12684674		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15694671	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15694671, 15850833, 26802051	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11699411, 15694671, 20157766		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	30231940		★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	17368936		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16827154, 17359939, 21637926, 22488108, 23419361, 23651211, 25176314, 27832779, 28216894, 28594907, 28645563, 28739744, 28927121, 29093570, 30536310, 30660174, 8112600		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17359939		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12000721		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	34750395	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	14684686, 37549562	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	11359464		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28739744, 8112600		★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17804716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23369236	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27589478	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36539520	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	24651014		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	26302069		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	20517681		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	BEFREE	11251971		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15192074, 16166334, 17507991, 17984306, 17990101, 18563556, 19915977, 21199807, 21224848, 22002679, 22618231, 23319603, 25645291, 26387946, 26548814, 26945854, 26971121, 28625320, 28734865, 29564971, 29636067, 29895705, 30576770, 30993885		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	27174628		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	18311783, 23419361		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	25368251		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	27315779, 29140985, 29742069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17804716, 26930648, 29742069		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17804716		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21753153, 30993885, 31182109		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23121112		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16823852, 20052673, 24574517, 24604720, 26921446, 27345403, 31371987		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	CTD_human_DG	16762588		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19077562, 19491270, 21415212, 22543857, 22710759, 22963678, 23201402, 24151255, 24548863, 24677392, 24854103, 24879917, 25263443, 25355626, 25780292, 25798057, 25872762, 26250887, 26277021, 26279301, 26291058, 26364607, 26612211, 26648518, 26753960, 26867682, 26987289, 27048589, 28374157, 28476678, 28481365, 28582847, 28728449, 28941308, 28944820, 29104635, 29344744, 29362023, 29371914, 29433547, 29448250, 29564971, 29687845, 29731896, 29742069, 29781036, 29785124, 29845783, 29953965, 30066922, 30138931, 30176223, 30192003, 30216523, 30365113, 30386247, 30525214, 30787609, 30821221, 31250981, 31257089, 31288004, 31297980, 31686854		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	23157415, 28260102, 30635938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25955824		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16084953, 17359939, 19037990, 19276344, 21447180, 21637926, 22972611, 23193956, 23495140, 23900621, 23934482, 24677392, 26498482, 26548814, 26753960, 26930648, 27593927, 28416488, 28719575, 29382707, 29742069, 29848572, 29895705, 29981397, 30065304, 30203564, 30502484, 30580328, 31250411, 31339741, 31395687, 31506332, 31706845, 8112600		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	25842263, 29921897, 30867779		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	22543857, 24722295, 28637464		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17822320, 17984306, 17990101		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25380486		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	21036696		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	BEFREE	28089369, 30065304		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	24708907		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	24708907	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	1370479, 17973255		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21673604	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	15958550		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	30591475		★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mid aortic syndrome	Mid Aortic Syndrome	CLINVAR_DG	29483232		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30708185		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG	22759690		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	25623554		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	1370479, 25257302, 30098829, 30529074, 31582544		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14726396, 27463014, 37834003	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	16934875, 18030350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	20805994	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple small medullary renal cysts	Multiple small medullary renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	39244638	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	28011285, 29194448		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	29194448	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29194448		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	31930426	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	23797473		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26802051	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	LHGDN	15254769		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	29040954		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29457735		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29042932		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10075489, 16023595, 16166334, 17507991, 17875691, 17990101, 18079963, 18469855, 19935714, 20337864, 20359736, 20428807, 21062756, 21224847, 21753153, 21890747, 22074495, 22219033, 22427350, 22506064, 23104211, 23157415, 23651211, 24911147, 25176314, 25257302, 25979380, 26364607, 26387946, 26666821, 26764364, 27251594, 27270422, 27345403, 27352383, 27463014, 27797378, 28374157, 28445154, 28476798, 28766245, 28941308, 28947133, 29232546, 29232552, 29559312, 29790547, 29895705, 29909892, 29921897, 30065304, 30114701, 30140405, 30198866, 30587589, 30666650, 30862883, 30993885, 31395687, 31506332, 31759078, 31850215		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	17584876, 30530967		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	10075489		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	31835735	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19263417, 20716592		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28219123		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26930648		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30816935		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22618231		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	21646926, 31791114		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29145611	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	27270422, 28469954, 28926924		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	33781318	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	26026399		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18632624		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	21042738, 21753153, 30993885, 31182109		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18632624, 20624166, 37796700	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23121112		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	16327489, 30468464, 37338014	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21224848, 25557173	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	18069660		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	29703930	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30580840		★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral pulmonary artery stenosis	Peripheral pulmonary artery stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	15604212		★☆☆☆☆ Found in Text Mining only
Polyostotic fibrous dysplasia	Polyostotic Fibrous Dysplasia	BEFREE	29474287		★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	BEFREE	27820424		★☆☆☆☆ Found in Text Mining only
Posterior embryotoxon	Posterior embryotoxon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	10075489		★☆☆☆☆ Found in Text Mining only
Preexcitation Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	18775522		★☆☆☆☆ Found in Text Mining only
Prelingual Deafness	Deafness	CTD_human_DG	12022040		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28848392, 30708185		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	30671485		★☆☆☆☆ Found in Text Mining only
PROPERDIN DEFICIENCY, X-LINKED	Properdin Deficiency, X-Linked	BEFREE	29474287		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16823852, 20052673, 24574517, 24604720, 26921446, 27345403, 31371987		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia	Pubtator	26341090	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15466172, 16823852		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22936788, 26921446, 32300177, 35710817	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24574517	Stimulate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	20531454	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoparathyroidism	Pseudohypoparathyroidism	Pubtator	2829196	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	31059052		★☆☆☆☆ Found in Text Mining only
Pulmonary Atresia with Intact Ventricular Septum	Pulmonary Atresia With Intact Ventricular Septum	BEFREE	20437614		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	34354706	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28776666, 30029934		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	BEFREE	10213047, 12297837, 12372254, 20437614		★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21062756		★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	BEFREE	23752887		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	23752887		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	30226866, 31585906		★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30896794		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	30896794	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24797362		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	24797362	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16307184		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	19265135		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasm	CTD_human_DG	16762588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Kaposi	Sarcoma	Pubtator	19816565, 27760204	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20580881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20580881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis	Scoliosis	Pubtator	19058200	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	28566723		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30930165		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	31686456	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31686456		★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2	Spondylocostal Dysostosis	BEFREE	22306179		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26930648, 31276933		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24351288	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27349552	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16023595		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	26764364		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15864753, 19077562, 19439479, 19491270, 21415212, 22543857, 22710759, 22963678, 23201402, 24151255, 24548863, 24677392, 24854103, 24879917, 25263443, 25355626, 25780292, 25798057, 25872762, 26250887, 26277021, 26279301, 26291058, 26364607, 26612211, 26648518, 26753960, 26867682, 26987289, 27048589, 28374157, 28476678, 28481365, 28582847, 28728449, 28941308, 28944820, 29104635, 29344744, 29362023, 29371914, 29433547, 29448250, 29564971, 29687845, 29731896, 29742069, 29781036, 29785124, 29845783, 29953965, 30066922, 30138931, 30176223, 30192003, 30216523, 30365113, 30386247, 30525214, 30787609, 30821221, 31250981, 31257089, 31288004, 31297980, 31686854		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26612211, 27120728, 29781036, 30380781, 32705238, 35465266	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	21757656		★☆☆☆☆ Found in Text Mining only
Telangiectasia Hereditary Hemorrhagic	Hereditary hemorrhagic telangiectasia	Pubtator	21764776	Associate	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	10213047, 11152664, 12372254, 12649809, 19780835, 19948535, 20437614, 21893051, 23956173, 26548814, 28878125, 29536580, 29631691		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	CTD_human_DG	11152664		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	UNIPROT_DG	11152664, 20437614		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	12649809, 19597493, 19948535, 28878125, 29536580	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	CLINVAR_DG	20437614		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	ORPHANET_DG	21893051		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	26760175		★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	34952204	Associate	★☆☆☆☆ Found in Text Mining only
Tricuspid Atresia	Tricuspid Atresia	BEFREE	12372254		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	19915977		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	27651315, 32032581, 35263601	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28476798, 30564555		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	24861552	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37988196	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15919944	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	29921897	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	19263417		★☆☆☆☆ Found in Text Mining only
Ventricular preexcitation	Ventricular preexcitation	BEFREE	18775522		★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	30530967, 30671724, 32495866	Associate	★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	18775522		★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	BEFREE	27967296		★☆☆☆☆ Found in Text Mining only